VWF

von Willebrand factor
OMIM: 613160
PanelMode of inheritanceDetails
2 panels
R-numbers: R90
Signed-off version 4.16
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
613554 von Willebrand disease, types 2A, 2B, 2M, and 2N, 277480 von Willibrand disease, type 3, 193400 von Willebrand disease, type 1
R-numbers: R121
Signed-off version 1.5
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
von Willebrand disease, type 1, OMIM:193400, von Willebrand disease, type 3, OMIM:277480, von Willebrand disease, types 2A, 2B, 2M, and 2N, OMIM:613554, von Willebrand disease 1, MONDO:0008668, von Willebrand disease 2, MONDO:0013304, von Willebrand disease 3, MONDO:0010191